Diagnostic yield of multi-gene panel for muscular dystrophies and other hereditary myopathies.

Genetic testing is being considered the first-step in the investigation of hereditary myopathies. However, the performance of the different testing approaches is little known. The aims of the present study were to evaluate the diagnostic yield of a next-generation sequencing panel comprising 39 genes as the first-tier test for genetic myopathies diagnosis and to characterize clinical and molecular findings of families from southern Brazil. Fifty-one consecutive index cases with clinical suspicion of genetic myopathies were recruited from October 2014 to March 2018 in a cross-sectional study. The overall diagnostic yield of the next-generation sequencing panel was 52.9%, increasing to 60.8% when including cases with candidate variants. Multi-gene panel solved the diagnosis of 12/25 (48%) probands with limb-girdle muscular dystrophies, of 7/14 (50%) with congenital muscular diseases, and of 7/10 (70%) with muscular dystrophy with prominent joint contractures. The most frequent diagnosis for limb-girdle muscular dystrophies were LGMD2A/LGMD-R1-calpain3-related and LGMD2B/LGMD-R2-dysferlin-related; for congenital muscular diseases, RYR1-related-disorders; and for muscular dystrophy with prominent joint contractures, Emery-Dreifuss-muscular-dystrophy-type-1 and COL6A1-related-disorders. In summary, the customized next-generation sequencing panel when applied in the initial investigation of genetic myopathies results in high diagnostic yield, likely reducing patient's diagnostic odyssey and providing important information for genetic counseling and participation in disease-specific clinical trials.

The synergistic risk effect of apolipoprotein ε4 and DNA (cytosine-5-)-methyltransferase 3 beta (DNMT3B) haplotype for Alzheimer's disease.

Alzheimer's disease (AD) is a complex and multifactorial disease with the contribution of several genes and polymorphisms to its development. Among these genes, the APOEε4 is the best known risk factor for AD. Methylation is associated with APOE expression and AD development. Recently, we found an association of the TGG haplotype in the DNMT3B gene, one of the catalyst enzyme for methylation, with AD. Therefore, the objective of the study was to investigate whether APOEε4 and TGG haplotype have an synergistic effect on AD. The sample was composed of 212 Caucasian individuals (108 healthy controls and 104 with AD by NINCDS-ADRDA and DSM-IV-TR criteria) from southern Brazil. The genetic analyses were performed by real time PCR for TaqMan(®) assay. Multivariate logistic regression was performed categorizing groups according to presence of APOEε4 and/or TGG haplotype as an independent variable for outcome AD. The presence of TGG haplotype plus the allele APOEε4 were strongly associated with AD [OR 11.13; 95 % CI (4.25-29.16); P < 0.001]. This association had a higher risk than each risk factor alone. We found a strong association of the interaction of DNMT3B gene with the APOEε4 in this sample of AD patients. The presence of TGG haplotype and APOEε4 significantly increased the risk of developing the disease, showing an synergistic effect.

C-reactive protein and cognition are unrelated to leukoaraiosis.

Elevated serum levels of C-reactive protein (CRP) have been associated with leukoaraiosis in elderly brain. However, several studies indicate that leukoaraiosis is associated with an increased risk of cognitive impairment. It is unknown how the effect of CRP on cognition is mediated by leukoaraiosis. The purpose of this study is to assess the relationship between serum levels of CRP, the presence of leukoaraiosis, and cognitive impairment in a population of coronary patients over 50 years old. CRP levels explained 7.18% (P: 0.002) of the variance of the MMSE. The adjustment for the presence of leukoaraiosis little changed this variance (5.98%, P: 0.005), indicating that only a small portion of the CRP influence on cognition was mediated via leukoaraiosis. Patients with CRP levels ≥ 5.0 had 2.9 (95% CI: 1.26-6.44) times more chance to present cognitive impairment (P: 0.012). We found that elevated serum levels of CRP were associated with increased risk of cognitive impairment in elderly and it was not mediated by presence of leukoaraiosis.

Caregiver burden related to feeding process in Alzheimer's disease.

Difficulties in the feeding process, such as aversive feeding behaviors and dysphagia, are common in patients with Alzheimer's disease (AD) and can often overload their caregivers. Although dysphagia is already established as a factor contributing to caregiver burden, the impact of aversive behaviors is less studied. Objectives: Evaluate the relationship between the feeding process in individuals with AD and their caregiver's burden. Methods: Dyads of individuals with AD and their caregivers were recruited for a cross-sectional study. The Edinburgh Feeding Evaluation in Dementia (EdFED) scale, the Zarit Burden Interview (ZBI), the mini-mental state examination (MMSE), the Functional Activities Questionnaire (FAQ), and the Functional Oral Intake scale (FOIS) were performed. Results: We included 60 AD individuals-caregivers dyads. The median (IQR) age of caregivers was 57 (19-81) years, and the most were females (70%). The individuals with AD had a median MMSE of 12 (6-15), and the disease duration was 4 (2-6) years. The mean (SD) Zarit score was 20.95 (6.51). In the multivariate linear regression, the EdFED score (95% CI 0.368-1.465) and time as a caregiver (95% CI 0.133-1.355) were associated with the caregiver's burden. Conclusions: Aversive behaviors were associated with the caregiver burden of individuals with AD, even with a short duration of the disease. These findings show the importance of education for caregivers regarding the feeding process, as these measures have great potential to minimize the caregiver's burden.

Dificuldades no processo de alimentação, como comportamentos alimentares aversivos e disfagia, são comuns em indivíduos com doença de Alzheimer (DA) e muitas vezes podem sobrecarregar seus cuidadores. Embora a disfagia já esteja estabelecida como um fator que contribui para a sobrecarga do cuidador, o impacto dos comportamentos aversivos é menos estudado. Objetivos: Avaliar a relação entre o processo de alimentação em indivíduos com DA e a sobrecarga de seus cuidadores. Métodos: Díades de indivíduos com DA e seus cuidadores foram recrutados para um estudo transversal. Os protocolos Edinburgh Feeding Evaluation in Dementia Scale (EdFED), Zarit Burden Interview (ZBI), Mini-Mental State Examination (MMSE), Functional Activities Questionnaire (FAQ) e Functional Oral Intake Scale (FOIS) foram realizados. Resultados: Incluímos 60 díades de cuidadores-indivíduos com DA. A idade mediana (intervalo interquartil ­ IQR) dos cuidadores foi de 57 (19­81) anos e a maioria era do sexo feminino (70%). A mediana do MMSE dos indivíduos com DA foi de 12 (6­15) e o tempo de doença foi de quatro (2­6) anos. A pontuação média do Zarit foi de 20,95 (6,51). Na regressão logística multivariada, o escore EdFED (intervalo de confiança de 95% ­ IC95% 0,368­1,465) e o tempo como cuidador (IC95% 0,133­1,355) foram associados à sobrecarga deste. Conclusões: Comportamentos aversivos foram associados à sobrecarga do cuidador de indivíduos com DA, mesmo com pouco tempo de doença. Esses achados mostram a importância da educação dos cuidadores quanto ao processo de alimentação, pois essas medidas têm grande potencial para minimizar sua sobrecarga.

Disparity in the use of Alzheimer's disease treatment in Southern Brazil.

Alzheimer's disease (AD) treatment is freely available in the Brazilian public health system. However, the prescription pattern and its associated factors have been poorly studied in our country. We reviewed all granted requests for AD treatment in the public health system in October 2021 in the Rio Grande do Sul (RS) state, Southern Brazil. We performed a spatial autocorrelation analysis with the population-adjusted patients receiving any AD medication as the outcome and correlated it with several socioeconomic variables. 2382 patients with AD were being treated during the period analyzed. The distribution of the outcome variable was not random (Moran's I 0.17562, P <.0001), with the most developed regions having a higher number of patients/100,000 receiving any AD medication. We show that although AD medications are available through the public health system, there is a clear disparity between regions of RS state. Factors related to socioeconomic development partly explain this finding.

Race-related population attributable fraction of preventable risk factors of dementia: A Latino population-based study.

Background: Risk factors for dementia have distinct frequency and impact in relation to race. Our aim was to identify differences in modifiable risk factors of dementia related to races and estimate their population attributable fraction (PAF). Methods: An epidemiological cohort was used to estimate the prevalence of 10 modifiable risk factors for dementia among five races-White, Black, Brown, Asian, and Indigenous. Sample weighting was used to estimate the prevalence and PAF of each risk factor in each race. Results: A total of 9070 individuals were included. Overall adjusted PAF was the lowest in Indigenous (38.9%), and Asian individuals (41.2%). Race-related prevalence of individual risk factors was widely variable in our population, but hearing loss was the most important contributor to the overall PAF in all races. Conclusions: Public policies aiming to reduce preventable risk factors for dementia should take into consideration the race of the target populations. HIGHLIGHTS: Preventable risk factors for dementia vary according to race.Hearing loss presented the highest prevalence among all races studied.Indigenous and Asian individuals presented the lowest population attributable fractions.Black and Brown individuals were more vulnerable to social determinants.

Clustering and switching analysis of verb fluency in individuals with Alzheimer's disease. / Análise de clustering e switching da fluência de verbos em indivíduos com doença de Alzheimer.

PURPOSE: To investigate verb fluency performance in individuals with Alzheimer's disease compared with healthy older adults by analyzing total correct responses, number of clusters, average cluster size, and number of switches. METHODS: This is a case-control study of 39 healthy older adults and 29 older adults with a diagnosis of Alzheimer's disease. Verb fluency performance was analyzed in terms of total number of correct verbs retrieved, number of clusters, average cluster size, and number of switches. To obtain the study outcomes, we previously conducted a procedure for categorization of the verbs that would compose the clusters. The classification of verbs was adapted for this study, including assessment by raters and analysis of inter-rater reliability. RESULTS: Individuals with Alzheimer's disease showed significantly poorer performance than healthy controls in the number of switches and total number of correct verbs retrieved. The two groups did not differ significantly in the other measures. CONCLUSION: In this study, individuals with Alzheimer's disease showed impaired verb fluency, characterized by a reduced number of verbs retrieved and fewer transitions between verb categories. The findings suggest that, in Alzheimer's disease, verb fluency is more sensitive to cognitive deficits resulting from executive dysfunction than from semantic disruption.

OBJETIVO: Investigar o desempenho na tarefa de fluência de verbos de pessoas com doença de Alzheimer em comparação à idosos saudáveis, a partir da análise do número total de palavras corretas evocadas, do número de clusters, do tamanho médio dos clusters e do número de switches. MÉTODO: Este é um estudo de caso-controle no qual participaram 39 idosos saudáveis e 29 participantes com diagnóstico de doença de Alzheimer. O desempenho da fluência de verbos dos participantes foi analisado quanto ao total de verbos gerados corretamente, número de clusters, tamanho médio dos clusters e número de switches. Para a obtenção dos desfechos do estudo foi realizado um processo prévio de definição das categorias de verbos que constituiriam clusters. A classificação dos verbos foi adaptada para a este estudo, incluindo a análise de juízes com investigação do índice de concordância. RESULTADOS: Dentre as variáveis de interesse comparadas entre os grupos estudados, houve um desempenho estatisticamente inferior no grupo de pessoas com doença de Alzheimer quanto ao número de switches e total de verbos gerados corretamente. Nas demais medidas, os grupos foram semelhantes. CONCLUSÃO: Neste estudo pessoas com doença de Alzheimer apresentaram déficit no desempenho da tarefa de fluência verbal de verbos, caracterizado por uma redução do número total de verbos gerados e uma menor variabilidade de categorias de verbos. Os achados sugerem que, na doença de Alzheimer, a fluência de verbos é mais sensível aos déficits cognitivos decorrentes de disfunção executiva do que aos déficits semânticos.

Who are the speech and language therapists who work with primary progressive aphasia in Brazil? An exploratory cross-sectional survey study.

Primary Progressive Aphasia (PPA) is a progressive language disorder associated with frontotemporal impairment and mainly affects the left hemisphere of the brain. In general, this condition compromises abilities related to comprehension and expression of language. The diagnosis of PPA depends on in-depth knowledge regarding functions of language, neurology, and neuropsychology. Speech and language therapists (SLTs) have a pivotal role in the diagnosis and rehabilitation of PPA. The absence of these professionals involved in the diagnosis and rehabilitation may reflect on the quality of care of people with PPA. Objective: To identify the sociodemographic, educational, and professional practice characteristics of SLTs who work with people with PPA in Brazil. Methods: An online questionnaire was disseminated to reach SLTs across Brazil. The questionnaire collected information regarding sociodemographics, training and education, practice (time, setting, service provision), and sources of referral. Results: The study included 71 participants (95.8% women). Specialization was the most frequent educational level followed by master's degree, and participants where mainly from the Southeast and South regions of Brazil. Neurologists were the professionals who most referred patients with PPA to SLTs. Finally, SLTs worked primarily in homecare settings and provided mainly individual therapy services. Conclusion: SLTs who work with PPA in Brazil can be characterized mainly as professionals with postgraduate degrees, relatively young, and from the South and Southeast regions of Brazil.

A afasia progressiva primária (APP) é um distúrbio progressivo da linguagem associado à atrofia de regiões frontotemporais predominantemente do hemisfério esquerdo do cérebro. De modo geral, a APP afeta as capacidades compreensivas e expressivas da linguagem. O diagnóstico depende de profissionais com profundo conhecimento das funções da linguagem, neurologia e neuropsicologia. A fonoaudiologia tem papel essencial no diagnóstico e reabilitação da APP, e a ausência de fonoaudiólogos nesses processos pode refletir na qualidade do cuidado das pessoas com APP. Objetivo: Identificar as características sociodemográficas, educacionais e de atuação profissional de fonoaudiólogos que atuam com APP no Brasil. Métodos: Foi distribuído um questionário em formato online para fonoaudiólogos de todo o Brasil. O questionário coletou informações sobre aspectos sociodemográficos, de formação, atuação profissional (tempo, local de atuação, tipo de serviço oferecido) e fontes de encaminhamento. Resultados: O estudo incluiu 71 participantes (95,8% mulheres). O nível educacional mais frequente foi a especialização, e as regiões demográficas com maior incidência de profissionais que atendiam APP foram as Regiões Sudeste e Sul do país. Os neurologistas foram os profissionais que mais encaminhavam pacientes com APP para os fonoaudiólogos. Por fim, os fonoaudiólogos atuavam, principalmente, em homecare e realizando, em sua maioria, terapia individual. Conclusão: Os fonoaudiólogos que atuam com APP no Brasil podem ser caracterizados principalmente como profissionais pós-graduados, relativamente jovens e das Regiões Sul e Sudeste do Brasil.

Preventable risk factors of dementia: Population attributable fractions in a Brazilian population-based study.

Background: Knowledge regarding the modifiable risk factors of dementia is fundamental to guide public health policy. We aimed to estimate the population attributable fraction of modifiable risk factors of dementia among adults from a nationwide epidemiological study. Methods: We used the public database of the Brazilian Longitudinal Study of Aging (ELSI-Brazil) to calculate the Population Attributable Fraction (PAF) for ten risk factors, including education level, hearing loss, hypertension, alcohol consumption, obesity, active smoking, depression, social isolation, physical inactivity, and diabetes. PAF was estimated for this sample after accounting for the communality of each risk factor. Findings: The ten preventable risk factors for dementia accounted for 50·5% of the Population Attributable Fraction in Brazil. Hearing loss (14·2%), physical inactivity (11·2%), and hypertension (10·4%) accounted for the highest PAF among all the risk factors. Considerable variation in the relative contribution of the different risk factors was found in different regions. Interpretation: This study might provide an opportunity to change the impact of dementia in Brazil. By targeting modifiable risk factors of dementia, the health of individuals in Brazil might be considerably improved. Funding: This study did not receive any funding.

Subjective cognitive decline in Brazil: Prevalence and association with dementia modifiable risk factors in a population-based study.

Introduction: Subjective cognitive decline (SCD) may be an early symptom of Alzheimer's disease. We aimed to estimate the prevalence of SCD in Brazil and its association with dementia modifiable risk factors. Methods: We used data of 8138 participants from the Brazilian Longitudinal Study of Aging (ELSI-Brazil), a population-based study that included clinical and demographic variables of individuals across the country. We calculated the prevalence of SCD and its association with dementia modifiable risk factors. Results: We found that the prevalence of SCD in Brazil was 29.21% (28.22%-30.21%), varying according to region, sex, and age. SCD was strongly associated with hearing loss, low education, psychological distress, Brown/Pardo and Black races. Discussion: The prevalence of SCD in Brazil is higher than in high-income countries. Brown/Black races and dementia modifiable risk factors were associated with SCD. Public strategies that target SCD may help mitigate the incidence of dementia.

Treatment of dementia: recommendations of the Scientific Department of Cognitive Neurology and Aging of the Brazilian Academy of Neurology.

There is currently no cure for neurodegenerative or vascular dementias, but some pharmacological and non-pharmacological interventions may contribute to alleviate symptoms, slow disease progression and improve quality of life. Current treatment approaches are based on etiology, symptom profile and stage of dementia. This manuscript presents recommendations on pharmacological and non-pharmacological treatments of dementia due to Alzheimer's disease, vascular cognitive impairment, frontotemporal dementia, Parkinson's disease dementia, and dementia with Lewy bodies.

Atualmente não há tratamento curativo para as demências neurodegenerativas ou para a demência vascular, mas algumas intervenções farmacológicas e não farmacológicas podem contribuir para aliviar os sintomas, retardar a progressão da doença e melhorar a qualidade de vida. As abordagens terapêuticas atuais são baseadas na etiologia, no perfil dos sintomas e no estágio da demência. Neste artigo apresentamos recomendações sobre os tratamentos farmacológicos e não farmacológicos da demência devida à doença de Alzheimer, comprometimento cognitivo vascular, demência frontotemporal, demência da doença de Parkinson e demência com corpos de Lewy.

Management in severe dementia: recommendations of the Scientific Department of Cognitive Neurology and Aging of the Brazilian Academy of Neurology.

Alzheimer's disease (AD) and other neurodegenerative dementias have a progressive course, impairing cognition, functional capacity, and behavior. Most studies have focused on AD. Severe dementia is associated with increased age, higher morbidity-mortality, and rising costs of care. It is fundamental to recognize that severe dementia is the longest period of progression, with patients living for many years in this stage. It is the most heterogeneous phase in the process, with different abilities and life expectancies. This practice guideline focuses on severe dementia to improve management and care in this stage of dementia. As it is a long period in the continuum of dementia, clinical practice should consider non-pharmacological and pharmacological approaches. Multidisciplinary interventions (physical therapy, speech therapy, nutrition, nursing, and others) are essential, besides educational and support to caregivers.

A doença de Alzheimer (DA) e outras demências neurodegenerativas têm um curso progressivo com comprometimento da cognição, capacidade funcional e comportamento. A maioria dos estudos enfocou a DA. A demência grave está associada ao aumento da idade, maior morbimortalidade e aumento dos custos de cuidados. É fundamental reconhecer que a demência grave é o período mais longo de progressão, com o paciente vivendo muitos anos nesta fase. É a fase mais heterogênea do processo, com diferentes habilidades e expectativa de vida. Esta diretriz de prática concentra-se na demência grave para melhorar o manejo e o cuidado nessa fase da demência. Como um longo período no continuum da demência, as abordagens não farmacológicas e farmacológicas devem ser consideradas. Intervenções multidisciplinares (fisioterapia, fonoaudiologia, nutrição, enfermagem, entre outras) são essenciais, além de educacionais e de apoio aos cuidadores.

Diagnosis of Alzheimer's disease: recommendations of the Scientific Department of Cognitive Neurology and Aging of the Brazilian Academy of Neurology.

This paper presents the consensus of the Scientific Department of Cognitive Neurology and Aging from the Brazilian Academy of Neurology on the diagnostic criteria for Alzheimer's disease (AD) in Brazil. The authors conducted a literature review regarding clinical and research criteria for AD diagnosis and proposed protocols for use at primary, secondary, and tertiary care levels. Within this clinical scenario, the diagnostic criteria for typical and atypical AD are presented as well as clinical, cognitive, and functional assessment tools and complementary propaedeutics with laboratory and neuroimaging tests. The use of biomarkers is also discussed for both clinical diagnosis (in specific conditions) and research.

Este artigo apresenta o consenso realizado pelo Departamento Científico de Neurologia Cognitiva e do Envelhecimento da Academia Brasileira de Neurologia sobre os critérios diagnósticos da Doença de Alzheimer (DA) no Brasil. Foi realizada uma revisão da literatura e dos critérios clínicos e de pesquisa para DA, sendo propostos protocolos para o diagnóstico de DA em níveis de atenção primária, secundária e terciária. Dentro deste cenário clínico, são apresentados os critérios diagnósticos para DA típica e atípica, além de instrumentos de avaliação clínica, cognitiva e funcional; bem como propedêutica complementar com exames laboratoriais e de neuroimagem. A utilização de biomarcadores é também apresentada, tanto para o diagnóstico clínico em situações específicas quanto para pesquisa.

Diagnosis of frontotemporal dementia: recommendations of the Scientific Department of Cognitive Neurology and Aging of the Brazilian Academy of Neurology.

"Frontotemporal dementia" (FTD) is a clinical syndrome characterized by the focal involvement of the frontal and/or temporal lobes. FTD has three clinical phenotypes: the behavioral variant and two linguistic subtypes, namely, non-fluent/agrammatic primary progressive aphasia (PPA-NF/A) and semantic PPA (PPA-S). FTD is the second most common cause of dementia in individuals under the age of 65 years. This article presents recommendations for the diagnosis of FTD in the Brazilian scenario, considering the three levels of complexity of the health system: primary health care, secondary and tertiary levels. Diagnostic guidelines are proposed, including cognitive testing, behavioral and language assessments, laboratory tests, and neuroimaging.

A "demência frontotemporal" (DFT) é uma síndrome clínica, cujo denominador comum é o acometimento focal dos lobos frontais e/ou temporais. A DFT tem três fenótipos clínicos distintos: a variante comportamental e dois subtipos linguísticos, a saber, a afasia progressiva primária não-fluente/agramática (APP-NF/A) e a afasia progressiva primária semântica (APP-S). A DFT é a segunda causa mais comum de demência em indivíduos com idade inferior a 65 anos, após a doença de Alzheimer. O presente artigo apresenta recomendações para diagnóstico da DFT no cenário brasileiro, considerando os três níveis de complexidade do sistema de saúde: atenção primária à saúde e níveis secundários. São propostos protocolos de investigação diagnóstica abrangendo testagem cognitiva, avaliação comportamental, avaliação fonoaudiológica, exames laboratoriais e de neuroimagem.

Diagnosis and management of Parkinson's disease dementia and dementia with Lewy bodies: recommendations of the Scientific Department of Cognitive Neurology and Aging of the Brazilian Academy of Neurology.

Parkinson's disease dementia (PDD) and dementia with Lewy bodies (DLB) represent the second most common type of degenerative dementia in patients aged 65 years and older, leading to progressive cognitive dysfunction and impaired quality of life. This study aims to provide a consensus based on a systematic Brazilian literature review and a comprehensive international review concerning PDD and DLB. Moreover, we sought to report on and give recommendations about the best diagnostic approaches focusing on primary and secondary care. Based on the available data, we recommend clinicians to apply at least one brief global cognitive instrument to assess PDD, such as the Mini-Mental State Examination and preferably the Montreal Cognitive Assessment and the Addenbrooke's Cognitive Examination-Revised. Validated instruments to accurately assess functional abilities in Brazilian PD patients are still incipient. Further studies should focus on biomarkers with Brazilian cohorts.

A demência da doença de Parkinson (DDP) e a demência com corpos de Lewy (DCL) representam a segunda causa mais comum de demência neurodegenerativa em pessoas com mais de 65 anos, ocasionando progressivo declínio cognitivo e comprometimento da qualidade de vida. O presente estudo tem como objetivo prover um consenso de especialistas sobre a DDP e DCL, baseado em revisão sistemática da literatura brasileira e revisão não-sistemática de literatura internacional. Ademais, tal estudo visa promover informação e conceder recomendações sobre abordagem diagnóstica, com foco nos níveis de atenção primária e secundária em saúde. Com base nos dados disponíveis, recomendamos que os profissionais realizem pelo menos um breve instrumento cognitivo global, como o Mini-Exame do Estado Mental, contudo de preferência optem pela Avaliação Cognitiva de Montreal e o Exame Cognitivo de Addenbrooke-Revisado. Observa-se uma carência de instrumentos validados para a avaliação precisa das habilidades funcionais em pacientes brasileiros com DDP e DCL. Além disso, mais estudos focando em biomarcadores com coortes brasileiras também são necessários.

Subjective cognitive decline, mild cognitive impairment, and dementia - syndromic approach: recommendations of the Scientific Department of Cognitive Neurology and Aging of the Brazilian Academy of Neurology.

This consensus, performed by the Brazilian Academy of Neurology (BAN) will approach practically how to evaluate patients with cognitive complaints and how to clinically and etiologically diagnose the three clinical syndromes associated with the different stages of cognitive decline: subjective cognitive decline (SCD), mild cognitive impairment (MCI), and dementia. This BAN consensus discusses SCD diagnosis for the first time, updates MCI and dementia diagnoses, recommends the adequate cognitive tests and the relevant etiological work-up and care of patients with cognitive decline at different levels of care within the Brazilian Unified Health System. We also review the main assessment instruments used in Brazil and Latin America.

Este consenso realizado pela Academia Brasileira de Neurologia (ABN) abordará de maneira prática como avaliar pacientes com queixas cognitivas e como realizar o diagnóstico clínico e etiológico das três síndromes clínicas associadas aos estágios de declínio cognitivo: declínio cognitivo subjetivo (DCS), comprometimento cognitivo leve (CCL) e demência. O diagnóstico de DCS é discutido pela primeira vez em consenso da ABN e as atualizações para o diagnóstico de CCL e demência são abordadas, bem como a recomendação para o uso de testes cognitivos apropriados, investigação etiológica pertinente e cuidados aos pacientes com declínio cognitivo nos diferentes níveis de atenção do Sistema Único de Saúde. Foi realizada pesquisa dos principais instrumentos de avaliação utilizados em nosso meio e na América Latina.

Diagnosis of vascular cognitive impairment: recommendations of the scientific department of cognitive neurology and aging of the Brazilian Academy of Neurology.

Since the publication of the latest recommendations for the diagnosis and treatment of Vascular Dementia by the Brazilian Academy of Neurology in 2011, significant advances on the terminology and diagnostic criteria have been made. This manuscript is the result of a consensus among experts appointed by the Scientific Department of Cognitive Neurology and Aging of the Brazilian Academy of Neurology (2020-2022). We aimed to update practical recommendations for the identification, classification, and diagnosis of Vascular Cognitive Impairment (VCI). Searches were performed in the MEDLINE, Scopus, Scielo, and LILACS databases. This guideline provides a comprehensive review and then synthesizes the main practical guidelines for the diagnosis of VCI not only for neurologists but also for other professionals involved in the assessment and care of patients with VCI, considering the different levels of health care (primary, secondary and tertiary) in Brazil.

Desde a publicação das últimas recomendações para o diagnóstico e tratamento da Demência Vascular pela Academia Brasileira de Neurologia em 2011, avanços significativos ocorreram na terminologia e critérios diagnósticos. O presente manuscrito é resultado do consenso entre especialistas indicados pelo Departamento Científico de Neurologia Cognitiva e do Envelhecimento da Academia Brasileira de Neurologia (2020-2022). O objetivo foi atualizar as recomendações práticas para a identificação, classificação e diagnóstico do Comprometimento Cognitivo Vascular (CCV). As buscas foram realizadas nas plataformas MEDLINE, Scopus, Scielo e LILACS. As recomendações buscam fornecer uma ampla revisão sobre o tema, então sintetizar as evidências para o diagnóstico do CCV não apenas para neurologistas, mas também para outros profissionais de saúde envolvidos na avaliação e nos cuidados ao paciente com CCV, considerando as diferentes realidades dos níveis de atenção à saúde (primário, secundário e terciário) no Brasil.

Brazilian Portuguese validation of the Leeds Assessment of Neuropathic Symptoms and Signs for patients with chronic pain.

BACKGROUND: Neuropathic pain (NP) is a very frequent and unrecognized condition in clinical practice. Therefore, it is important to have a reliable instrument to assess pain subtypes in various cultures. The Leeds Assessment of Neuropathic Symptoms and Signs (LANSS) has been widely used and validated in many countries. Up to now, there has been no reliability study of this instrument in Brazil. METHODS: The scores of the Brazilian Portuguese version of the LANSS were studied in a sample of 90 chronic pain outpatients from southern Brazil. LANSS was translated into Portuguese and then back translated to English. Intraclass correlation coefficient (ICC) and internal consistency (IC) were estimated. The intensity of pain complaints, other demographic data, and LANSS scores distribution according to pain subtypes (nociceptive, neuropathic, and mixed) were also evaluated. RESULTS: The Brazilian Portuguese version of the LANSS showed good ICC (r = 0.97) and IC (Cronbach's α = 0.67 for total LANSS score). Patients with NP provided significant higher LANSS scores (19.1 ± 3.3) in comparison with those with nociceptive (7.3 ± 4.5) and mixed (13.9 ± 3.7) types of pain. CONCLUSIONS: This LANSS version was found to be a reliable instrument for the evaluation of pain complaints due to a variety of causes. The profile of pain scores was similar to that observed in other countries.

Thrombolytic therapy for acute stroke in the elderly: an emergent condition in developing countries.

Elderly patients may represent an important group when considering new stroke treatments, particularly in developing countries. The aim of this study was to analyze the use of recombinant tissue plasminogen activator (rtPA) in elderly Brazilian patients with acute ischemic stroke. Clinical and neuroimaging parameters at admission, frequency of symptomatic intracranial hemorrhage, and outcome were compared between elderly (≥80 years) and nonelderly (<80 years) stroke patients treated with rtPA in the Porto Alegre Stroke Network. We evaluated 183 nonelderly patients (mean age, 63 ± 12 years) and 55 elderly patients (mean age, 84 ± 3 years). Female sex, hypertension, congestive heart failure, atrial fibrillation, and previous history of stroke or transient ischemic attack were more frequent in the elderly patients. Elderly patients also presented with higher mean systolic blood pressure (P = .03) and National Institutes of Health Stroke Scale (NIHSS) score (P < .0001), whereas the nonelderly patients had a higher serum glucose level (P = .03). The rate of symptomatic intracranial hemorrhage was 10.9% in the elderly patients and 6.6% in the nonelderly patients (P = .28), and a substantial proportion of the elderly patients achieved a favorable outcome (modified Rankin Scale score ≤1) at 90 days, although this proportion was lower than that in the nonelderly patients (42% vs 58%; P = .04). Poorer outcomes were generally seen in elderly patients with an anterior circulation stroke, a higher NIHSS score, hypoattenuation in ≥1/3 lf the middle cerebral artery territory, and an Alberta Stroke Program Early CT score of ≤7 on an initial computed tomography scan. Our results support the administration of intravenous rtPA in selected elderly stroke patients presenting early to the hospital in developing countries.

Tertiary center referral delay of patients with dementia in Southern Brazil: associated factors and potential solutions.

Early dementia diagnosis has many benefits and is a priority. In Brazil, most cases are diagnosed by a specialist. OBJECTIVE: We aimed to study the average time from disease onset to specialist assessment and related factors; we also propose potential strategies to deal with this delay. METHODS: This was a cross-sectional database study in 245 patients with dementia from an outpatient clinic in a tertiary university hospital in Southern Brazil, which only assesses individuals from the Unified Health System (SUS). The outcome was time from symptoms onset to specialist assessment, reported by the informants. Individuals were separated into two groups: less and more than 1 year to specialist assessment. Multivariable analysis was used to test the potential related factors associated with delayed specialist assessment. RESULTS: Mean±SD of time from symptoms onset to specialist assessment was 3.3±3.3 years. In the unadjusted analysis, individuals who were assessed before 1 year were more often diagnosed with vascular dementia, had more sudden and subacute onset, neuropsychiatric symptoms at presentation, rapid progression, and alcohol and antipsychotics use (p<0.05). In multivariate analysis, the effects of personality changes and onset presentation persisted, even when controlling for other variables. CONCLUSION: We found a long time from disease onset to specialist assessment, and those with personality changes and faster presentation were referred earlier. Improving the diagnostic capability of general practitioners, mass educational campaigns and transmission of knowledge by experts are some potential strategies to deal with delay of dementia diagnosis.

O diagnóstico precoce de demência tem muitos benefícios e deve ser uma prioridade. No Brasil, ele é feito por especialistas na maioria dos casos. OBJETIVO: O objetivo deste estudo foi avaliar o tempo médio entre o início da doença até a avaliação com especialista e seus possíveis fatores relacionados; também propomos estratégias potenciais para lidar com esse atraso. MÉTODOS: Trata-se de um estudo transversal de base de dados com 245 pacientes com demência atendidos em ambulatório de um hospital universitário do sul do Brasil, que avalia indivíduos provenientes do Sistema Único de Saúde (SUS). O desfecho principal foi o tempo entre o início dos sintomas até a avaliação com o especialista, relatados pelos informantes. Os indivíduos foram separados em dois grupos: tempo até a consulta com o especialista menor e maior que 1 ano. A análise multivariável foi usada para testar os possíveis fatores relacionados à avaliação tardia pelo especialista. RESULTADOS: O tempo médio±DP entre o início dos sintomas e a avaliação com o especialista foi de 3,3±3,3 anos. Na análise não ajustada, os indivíduos que chegaram para avaliação antes de 1 ano do início da doença foram diagnosticados com mais frequência com demência vascular, tiveram início do quadro mais repentino e subagudo, sintomas neuropsiquiátricos na apresentação, progressão rápida, uso de álcool e antipsicóticos (p<0,05). Na análise multivariada, apenas alterações de personalidade e início rápido dos sintomas mostraram-se preditores para chegada mais precoce ao especialista, mesmo controlando possíveis confundidores. CONCLUSÃO: Encontramos um longo tempo entre o início da doença até a avaliação do especialista e indivíduos com alterações de personalidade e apresentação mais rápida foram encaminhados mais precocemente. Melhorar a capacidade diagnóstica do médico de família, campanhas educacionais em massa e transmissão de conhecimento por especialistas são algumas estratégias potenciais para lidar com o atraso do diagnóstico de demência.